JOURNAL, Journal of Pediatric Genetics

Issue 02 · Volume 14 · 2025

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Journal of Pediatric Genetics

Issue 02 ·
Volume 14 · 2025

     Original Research Articles


Unraveling the Etiology of Childhood Hypotonia Using Exome Sequencing

Arya Shambhavi, Amita Moirangthem, Rajesh Kumar Maurya, Varunvenkat M. Srinivasan, Haseena Sait, Somya Srivastava, Renu Suthar, and Shubha R. Phadke

Phenotyping and Provisional Diagnosis of Mucopolysaccharidoses Based on Machine Learning

Srilatha Kadali, Shaik Mohammad Naushad, and Vijaya Lakshmi Bodiga

Diagnosis and Initial Tratment of Gorham-stout’s Disease

Jesús González Cayón, Maria del Carmen San Basilio Berenguer, Julio César Moreno Alfonso, Santiago De la Puente Pérez, Paloma Triana Junco, and Juan Carlos López Gutiérrez

Systematic Exploration of TRPV6 Variants in Pancreatitis: Unraveling Genetic Associations and Pathophysiological Insights through Comprehensive Systematic Review and In-Silico Analysis

Omar Alomari, Rumeysa Yegin, Muhammed Edib Mokresh, Ghazaleh Kokabi Ghahremanpour, Nurullah Komurcu, Elif Nur Ari, Magda Wojtara, Ali Karaman, and Abdulqadir J. Nashwan

Infantile Hypertriglyceridemia Secondary to GPD1 Defects: An Underdiagnosed Differential of Infantile Hepatomegaly and Hepatic Steatosis

Snigdha Verma, Vikrant Sood, Bikrant Bihari Lal, Rajeev Khanna, Chhagan Bihari, and Seema Alam

Novel Insights into WDFY3 Pathogenicity: A Case Report of Microcephaly and Epilepsy

Pietra Spinardi, Gabriel Bordignon, Gustavo Moura da Mata Machado Ferreira Pinto, Monica Alexandra de Conto, and Daniel Almeida do Valle

Unresponsiveness to Vitamin Therapy in Twins with Early Onset Biotin-Thiamine Responsive Encephalopathy Type 2 Caused by Biallelic Truncating Variant in SLC19A3 Gene

Siddaramappa J. Patil, Minal Kekatpure, Venkatraman Bhat, Harini Sreedaran, and Rajiv Aggarwal

A Case of Extra-Arterial Vascular Anomalies in a Patient with Williams Syndrome

Meredith Barrientez, Katherine Forrester, and Margaret Rozier-Chen

All articles are licensed under a Creative Commons Attribution-NonCommercial 4.0 International License and are freely accessible for non-commercial use.

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